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Article: Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

TitleBarber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
Authors
KeywordsAblepharon-macrostomia syndrome
Barber-Say syndrome
Body satisfaction
Patient perception
Psychosocial functioning
Issue Date2017
PublisherS. Karger AG. The Journal's web site is located at http://www.karger.com/msy
Citation
Molecular Syndromology, 2017, v. 8 n. 4, p. 172-178 How to Cite?
AbstractBarber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves. © 2017 The Author(s).
Persistent Identifierhttp://hdl.handle.net/10722/240934
ISSN
2023 Impact Factor: 0.9
2023 SCImago Journal Rankings: 0.385
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorDe Maria, B-
dc.contributor.authorde Jager, T-
dc.contributor.authorSarubbi, C-
dc.contributor.authorBartsch, O-
dc.contributor.authorBianchi, A-
dc.contributor.authorBrancati, F-
dc.contributor.authorChung, BHY-
dc.contributor.authorDavid, A-
dc.contributor.authorKariminejad, A-
dc.contributor.authorForesti, M-
dc.contributor.authorGallottini, M-
dc.contributor.authorIsidor, B-
dc.contributor.authorMarchegiani, S-
dc.contributor.authorMartins, F-
dc.contributor.authorMazzanti, L-
dc.contributor.authorRoche, N-
dc.contributor.authorSingh, A-
dc.contributor.authorStevens, C-
dc.contributor.authorSuga, K-
dc.contributor.authorZenker, M-
dc.contributor.authorHennekam, RC-
dc.date.accessioned2017-05-22T09:19:44Z-
dc.date.available2017-05-22T09:19:44Z-
dc.date.issued2017-
dc.identifier.citationMolecular Syndromology, 2017, v. 8 n. 4, p. 172-178-
dc.identifier.issn1661-8769-
dc.identifier.urihttp://hdl.handle.net/10722/240934-
dc.description.abstractBarber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves. © 2017 The Author(s).-
dc.languageeng-
dc.publisherS. Karger AG. The Journal's web site is located at http://www.karger.com/msy-
dc.relation.ispartofMolecular Syndromology-
dc.rightsMolecular Syndromology. Copyright © S. Karger AG.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectAblepharon-macrostomia syndrome-
dc.subjectBarber-Say syndrome-
dc.subjectBody satisfaction-
dc.subjectPatient perception-
dc.subjectPsychosocial functioning-
dc.titleBarber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View-
dc.typeArticle-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1159/000472408-
dc.identifier.pmid28690482-
dc.identifier.pmcidPMC5498967-
dc.identifier.scopuseid_2-s2.0-85018346595-
dc.identifier.hkuros272381-
dc.identifier.volume8-
dc.identifier.issue4-
dc.identifier.spage172-
dc.identifier.epage178-
dc.identifier.isiWOS:000404365800002-
dc.publisher.placeSwitzerland-
dc.identifier.issnl1661-8769-

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